ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.627G>A (p.Gln209=)

gnomAD frequency: 0.00001  dbSNP: rs748970378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970587 SCV001118176 likely benign Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-12-01 criteria provided, single submitter clinical testing

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